Rare Diseases Community

The Rare Disease Community extends and generalises the system of access authorisation and high volume secure data transfer developed within the EGA project (see the Federated Human Data Community page for details).

The goal of the Community is to create a federated infrastructure that will enable researchers to discover, access and analyse different rare disease repositories across Europe. It is doing this in partnership with other European infrastructure projects, namely RD-CONNECT, BBMRI-ERIC and E-Rare.

Services offered

  • Rare Disease registry: a catalogue of tools and data resources useful for rare disease research. This was developed by the Rare Disease Community and is continuously updated by them.
  • ELIXIR Rare Diseases Service Bundles: Use Case focussed user journeys through the suite of of tools and data resources useful for rare disease research. Members of the ELIXIR Rare Diseases Community have generated these Service Bundles and they are continuously updated.

Goals of the Community

To maintain a registry of data resources and analysis tools critical for rare disease research

  • The Community works to identify the data resources and tools most used in rare disease research, and to identify resources that are required but that don't currently exist.
  • The portfolio of resources is maintained at bio.tools.
  • The Community has published the results of its 2017 data and tools survey.

To provide a technical framework for the comparison and standardisation of services used by the rare disease communities

  • The Community has developed a rare disease data linkage plan that allows it to test that tools, models, and protocols to standardise data services in the rare disease domain conform to Findable, Accessible, Interoperable and Reusable (FAIR) data principles.
  • To achieve this, the Community collaborates with stakeholders such as RD-Connect, BBMRI(-NL), and the FAIR project FAIR-dICT.

To build a portal through which authorised researchers can access rare disease data from repositories and catalogues around Europe

To organise training courses, workshops and hackathons

  • ​ These events train rare disease researchers how to use ELIXIR services, and capture the special service requirements of the Rare Disease community.
  • See the events page for upcoming courses and workshops.

Commissioned Services

The Rare Diseases Community has been involved in a number of short-term, technical projects called Commissioned Services. The current study it is involved in is:

For the previous studies involving the Rare Diseases Community see the Commissioned Services page.


Marco Roos
Marco Roos
(ELIXIR Netherlands)
Sergi Beltran
Sergi Beltran
(ELIXIR Spain)
Giselle Kerry
Giselle Kerry (Programme Manager for Human Genomics and Translational Data, ELIXIR Hub)

Find out more

  • Contact Giselle Kerry (giselle.kerry [at] elixir-europe.org) to learn how you can get involved with ELIXIR's work with rare diseases, and how this work can help you.
  • Rare Diseases pilot project
  • Communities